Ketone Metabolism Disorders
Disease (OMIM Number) | Defective Proteins or Enzymes | Comments |
|---|---|---|
3-Hydroxy-3-methylglutaryl-CoA synthase-2 deficiency (605911*) | 3-Hydroxy-3-methylglutaryl-CoA synthase | Biochemical profile: See below Clinical features: Episodic nonketotic hypoglycemia, encephalopathy, hepatomegaly Treatment: Avoidance of fasting |
3-Hydroxy-3-methylglutaryl-CoA lyase deficiency (246450*) | 3-Hydroxy-3-methylglutaryl-CoA lyase | Biochemical profile: Hypoglycemia, metabolic acidosis without ketonuria Clinical features: Irritability, lethargy, vomiting Treatment: Avoidance of fasting, leucine restriction |
Succinyl-CoA:3-oxoacid-CoA transferase deficiency (245050*) | Succinyl-CoA 3-oxoacid-CoA transferase | Biochemical profile: Ketonuria Clinical features: Severe episodic ketoacidosis, vomiting, hyperventilation Treatment: Glucose during acute episodes plus judicious use of bicarbonate, high-carbohydrate diet with some restriction of protein and fat |
Mitochondrial acetoacetyl-CoA thiolase deficiency (203750*) | Mitochondrial acetoacetyl-CoA thiolase | Biochemical profile: Severe metabolic acidosis, hypoglycemia, ketonuria Clinical features: Lethargy, vomiting Treatment: Avoidance of fasting |
Cytoplasmic acetoacetyl-CoA thiolase deficiency (614055*) | Cytoplasmic acetoacetyl-CoA thiolase | Biochemical profile: Ketonuria Clinical features: Intellectual disability, hypotonia Treatment: Not established |
* For complete gene, molecular, and chromosomal location information, see the Online Mendelian Inheritance in Man (OMIM) database. | ||